We report a case of congenital cervical rhabdoid tumor with association of a medulloblastoma in a brother. The immunohistochemical features of this tumor are compatible with a neuroectodermal differentiation (MIC 2+, Leu 7+). Extrarenal rhabdoid tumors share a common morphology but do not represent a single entity with only one histogenesis. Most of them are now considered to be of neuroectodermal origin. In our case, the association with a medulloblastoma in a brother seems to confirm this concept.

Prostate cancer is the second most frequent cancer in men, and the first after 75 years of age. It is androgen dependent and modifications of the androgen receptor (AR) could therefore be involved in its apparition, progression and evolution towards a stage of androgen independence which always occurs. Mutations of the AR have indeed been described. Some result in a more active receptor (constitutive mutations, amplification of the AR gene expression, prevalence of shorter alleles in exon 1) and could therefore be responsible for the progression of the disease in the absence of androgens or the increased cancer risk in some populations. Other mutations, in the ligand binding domain, modify the AR specificity resulting in its activation by weak androgens or even antiandrogens, progestagens or estradiol. These mutations could also explain why prostate cancer progresses in the absence of androgens. On the other hand, mutations resulting in androgen insensitivity could explain why a significant number of prostate cancer remain latent and never develop into an aggressive tumor. Finally, exon 1 polymorphism could be used as a prognostic marker, as it has been shown that the shorter alleles result in a more active AR and are predominant in populations at higher risk for prostate cancer. At any rate, even if AR mutations may be more frequent than initially thought, they remain rare and their significance remains to be determined.

The size of a tissue such as the epidermis, and its potential growth, results from the balance between cell production and loss. The mechanisms controlling these two parameters are still poorly understood. Major advances have however been recently achieved in our knowledge of cell cycle regulation and programmed cell death. Dysregulation could explain the development of neoplastic tumors. Basal cell carcinoma basically results from a fall in programmed cell death. Spindle cell carcinoma results from an increased cell production. Both mechanisms are involved in melanoma. One must however keep in mind the fact that we are dealing with hypotheses which remain to be verified.

The multiple exostosis syndrome is a rare disease transmitted by autosomal dominant inheritance. Bone growth projecting outward from the long bones is observed in multiple localizations during growth. Prognosis of this benign disease is worsened by the possibility of chondrosarcoma. We report three cases of subungueal exostoses observed in children revealing hereditary exostosis.

Prostate growth factor (PGF) was the first growth factor isolated from the prostate. Because of its proliferative effect on fibroblasts and its affinity for heparin, it was first recognized as belonging to the family of fibroblastic growth factors then identified as bFGF (basic fibroblast growth factor) by Story in 1980. The presence of paracrine signals between the fibromuscular stroma and the epithelial tissue in the prostate were first demonstrated in 1970 by the incapacity of epithelial cells to grow without the presence of mesenchymal tissue. These paracrine relations are established during embryogenesis of the prostate and are required for its development and functional control in the adult. Keratinocyte growth factor (KGF), also called FGF-7, could be a stomal androgen mediator with a mitogenic paracrine effect on the epithelium. Dysregulation of growth factors has been suggested to be involved in the development of prostate tumors in elderly men (benign hypertrophy and cancer of the prostate). FGFs probably play an important role in benign prostate hypertrophy. Several studies have demonstrated an important rise in mRNA levels for these factors in benign hyperplastic tissue compared with "normal" tissue. This increased level would be associated with fibromuscular proliferation in periglandular tissue and could explain, at least in prat, the epithelial hyperplasia often associated with the paracrine stimulating effect. In prostate cancer, different families of growth factors have been associated with acquisition of aggressive tumor functions. The EGF receptor and its ligands, the IGF family, beta TGF and certain neuropeptides could be partially implicated in androgen-independent autocrine growth. Heparin-related growth factors (FGFs, Midkine family), VEGF or endothelin could be more particularly implicated in metastatic progression by stimulating cell motility, angiogenesis and metastatic implantation by a two-way cooperation between the tumor and the stroma in which it is implanted. Several of these factors are found in the blood stream and have been proposed as biological markers of poor prognosis. Knowledge of peptides regulating prostate growth or of growth factor antagonists has led to the concept of antipeptidergic therapy as an adjuvant in antiprostate tumor regiments.

Malignant tumors of soft tissue constitute a very heterogeneous group of tumors which is composed of more than 50 different entities derived from either the mesenchyme or the neuroectoderm. Diagnostic problems can be linked to the difficulty to firmly establish the diagnosis of malignancy and to the precise determination of the type of sarcoma. The prognostic is largely dependent on local and distant extension of the cancer. The study of the genotype of tumor cells has enabled the detection and characterization of genetic alterations. These alterations, frequently chromosome translocations, are specific markers for subgroups of tumors and can thus be of clinical relevance. These markers can be detected by cytogenetic, in situ hybridization or molecular biology techniques. The specificity of these alterations for tumor cells and the possibility to detect them with the highly sensitive polymerase chain reaction (PCR) technique have enabled development of tests aimed at the detection of tumor cells within potential metastatic sites.

We report a family with incontinentia pigmenti. One affected woman had seven pregnancies, seven miscarriages; a prenatal diagnosis by molecular biology was undertaken in the last four cases (two males, two females). In the last two males, a miscarriage occurred at the beginning of the second trimester with cystic hygroma in a case. In the first two males a miscarriage was observed also at the beginning of the second trimester after chorionic biopsy or amniocentesis. These two miscarriages would not be a complication of prenatal diagnosis but spontaneous abortion of an affected male. The date of the miscarriage of affected males (the beginning of the second trimester) and the role of a cystic hygroma for the diagnosis of incontinentia pigmenti in this mother of a fetus karyotyped 46,XY are discussed.

Studies of tumour cell genetic alterations have demonstrated the existence of two distinct groups of colorectal cancers. The first one is characterised by the existence of hyperploid tumour cells and frequent loss of heterozygosity. These colorectal cancers are the most common. The second one is characterised by the presence of microsatellite instability. Among the most frequent genetic alterations, the loss of heterozygosity on the short arm of chromosome 17 and the long arm of chromosome 18 seems to be indicators of a pejorative prognosis. In the same way the existence of a p53 mutation in tumour cells has been demonstrated as an independent prognostic factor in colorectal cancer. The indication of an adjuvant chemotherapy on the basis of such genetic alterations remains to be demonstrated by randomised trials.